Medicines for Creutzfeldt-Jakob disease

What it is

Creutzfeldt-Jakob disease (CJD) is a very rare but serious and progressive brain condition. It is one of a group of conditions called prion diseases, which are caused by abnormal, misfolded forms of a protein (called prions) that build up in the brain and cause progressive damage to the brain tissue, leading to a decline in brain function. CJD is rare. There are different forms: the most common is sporadic CJD, which occurs without a known cause, usually in later life; there are also inherited (familial) forms, related to a genetic change; and acquired forms, which are caught from an outside source of the abnormal prion — this includes variant CJD (vCJD), which was linked to eating contaminated beef products during the "mad cow disease" (BSE) outbreak, and, very rarely, CJD acquired through certain medical procedures in the past. Measures have been taken to reduce these risks. CJD causes a progressive decline in brain function, and the symptoms, which usually worsen over a relatively short time (weeks to months for sporadic CJD, though the course varies with the type), can include: rapidly progressing problems with memory, thinking, and behaviour (a rapidly progressive dementia); problems with movement and coordination (such as unsteadiness, and jerky, involuntary movements); changes in mood, personality, and behaviour; problems with vision, speech, and other functions; and, as it progresses, increasing loss of physical and mental functions, needing full care. CJD is a fatal condition, and there is currently no cure and no treatment that stops or reverses it. Diagnosis is made by specialists, based on the symptoms and tests (such as brain scans, tests of the fluid around the brain, and brain activity tests), and can be difficult, particularly early. Because there is no cure, the focus of care is on supporting the person and managing their symptoms and comfort, and on supporting the family — through specialist and supportive/palliative care, with a multidisciplinary team, as the person needs increasing care. This is a devastating condition, and compassionate support for the person and family is central. The key messages are that CJD is a very rare, serious, progressive brain condition caused by abnormal proteins (prions), that there is no cure, and that care focuses on comfort, support, and the person and family.

How it is treated

Creutzfeldt-Jakob disease is managed with supportive and palliative care focused on the person’s comfort, managing symptoms, and supporting the family, coordinated by specialists; there is no cure or treatment to stop it, so care is compassionate and supportive throughout. Because CJD is very rare, serious, and its symptoms (a rapidly progressive decline in brain function) can overlap with other conditions, diagnosis is made by specialists (neurologists), based on the pattern of rapidly progressing symptoms and tests — such as brain scans (MRI), tests of the fluid around the brain and spinal cord, tests of brain activity (EEG), and other investigations — to build the diagnosis and exclude other causes (some of which may be treatable, so this is important); diagnosis can be difficult, particularly early. Because there is no cure and no treatment that stops or reverses CJD, the focus of care is entirely on supporting the person and managing their symptoms and comfort, and on supporting the family, provided by a multidisciplinary team and, importantly, with specialist and palliative care input. Care is individual and adapts as the condition progresses and needs increase rapidly, and may include: managing symptoms to keep the person comfortable — such as treating any distressing symptoms, managing movement symptoms, and providing comfort; supporting the person’s needs as they lose functions — including care with daily activities, mobility, eating and swallowing (with appropriate support and decisions about nutrition and comfort), communication, and full nursing care as the condition advances; and providing palliative care focused on comfort, dignity, and quality of life throughout. Support for the family and carers — practical, emotional, and bereavement support — is a central and vital part of care, given how devastating CJD is and how quickly it progresses. Specialist services (including national prion/CJD services) provide expertise, support, and coordination, and support organisations provide information and support for families. Advance care planning, made sensitively where possible, helps ensure care reflects the person’s wishes. For the inherited forms, genetic counselling is available for families. Because certain acquired forms (such as vCJD) were linked to specific exposures, measures have been taken to reduce these risks (for example in relation to blood and medical procedures), and public health measures continue. The reassuring message, within the profound seriousness and sadness of this condition, is that, although CJD is a fatal condition without a cure, care focuses compassionately on the person’s comfort, dignity, and quality of life, on managing their symptoms and needs as they progress, and on supporting the family throughout, with specialist and palliative care; so compassionate supportive and palliative care, symptom management, and support for the person and family are central to the care of CJD.